What Is NIPT?

During pregnancy, maternal blood contains cells from each mother and placenta. These cells transmite their genetic material directly into the mothers circulation. Therefore, there are fetal elements in maternal blood, such as DNA, RNA and protein which belongs to the fetus. NIPT testing provide an opportunity to identify various anomalies by using these cell free materials.

Generally, it is recommended to be done since 10th week of pregnancy. It is possible for this test to be done only by taking small amount of blood sample from the mother. So unlike the invasive diagnostic tests, NIPT has no effect on the risk of miscarriage.

Which Anomalies Can Be Detected?

NIPT, allows for these main anomalies to be tested with high sensitivity;

• Down Syndrome (Trisomy 21)
• Edward Syndrome (Trisomy 18)
• Patau Syndrome (Trisomy 13)
• Turner Syndrome (45,X0)

It has been reported that especially for Down Syndrome, it is possible to identify 99 percent of cases by NIPT. However, according to the results obtained, it is suggested to confirm the results with diagnostic tests such as amniocentesis or CVS.

Why Should Get The NIPT?

• To determine the risks before getting CVS or amniocentesis.
• For the situations of advanced maternal age is a risk factor.
• When findings from previous screening tests point to the risks of anomalies.
• If the mother has gave birth to a child with chromosomal anomalies before.
• In the situations that parents has family history with chromosomal anomalies.

Understanding The Results

In cases where NIPT result is defined as ‘normal’, ‘negative’ or ‘low risk’, it means that the fetus is unlikely to have these chromosomal anomalies. On the other hand, the result can be defined as ‘abnormal’, ‘positive’ or ‘high risk’ which means the fetus is likely to have these chromosomal anomalies therefore further diagnostic tests are required.

In addition, it is important to take NIPT into consideration as a screening test rather than the diagnostic test and the results must be consulted to a doctor or a genetic counsellor.

WES (WHOLE EXOME SEQUENCING)

Human genome consists of approximately 20.000 genes. All these 20.000 genes have regions called ‘exons’ and ‘introns’. Exons are the regions that responsible from encoding and they are translating into proteins. All exons are referred to as exomes.

Even though the exome corresponds to approximately %2 of the genome, the majority of disease-causing mutations (about %85) occur in exons.

Whole Exome Sequencing is a comprehensive genetic test that allows analysis of the disease at the DNA level by sequencing all exons in the patient's genome. WES makes it possible to focus on the functionally coding exome and get reliable and fast results.

Throughout the WES process, clinical findings of the patient are extremely important and instructive. In line with clinical findings, analysis can be made within the scope of the relevant gene, and the result can be reached more quickly and easily.

Cases That WES Is Recommended

Some of the situations which whole exome sequencing is recommended are as follows;

• In patients whose clinical findings cannot be specifically attributed to a particular gene,
• In patients who have a child with a genetic disorder and are planning a new pregnancy
• In complicated cases where clinical findings overlap with more than one gene-related disease,
• It is recommended in cases where the diagnosis cannot be made as a result of the first genetic tests.

Results and Analysis

• WES reports the results by detecting variants in the whole exome.
• The reported variants should be analyzed by the genetic counselor accordance with the variant classification criteria set by the ACMG (American College of Medical Medicine).

It is a genetic test group that enables the detection of congenital (germline) or acquired (Somatic) changes and allows preventive and correct therapeutic solutions through awareness.

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Sanger Sequencing

Sanger sequencing method is the sequence analysis method that has been accepted as the "Gold Standard" over the years.

The human genome includes all of the genetic material and consist 6 billion base pairs. These base pairs are defined as Adenine (A), Thymine (T), Guanine (G), Cytosine (C). It is possible to determine the order of these bases with the Sanger sequence method.

Sanger Sequencing method is used to detect genetic variants with certain phenotypes and to confirm the variants detected by next generation sequencing (NGS).

Next Generation Sequencing (NGS)

SIt is the process of parallel sequencing of fragments formed from DNA and RNA sequences. Next Generation sequencing method,makes possible to obtain data about the sequence quickly and simultaneously at low cost.

With this technology, a region in DNA is read hundreds of times. In this way, low level changes in ratio can be detected. It has the capacity to read the entire genome of a human. With the labeling system, samples can be easily distinguished from each other, so it is possible to reduce the cost by working multiple samples in the same reaction.